Mirja Thomsen

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

Haloom Rafehi, Justin Read, David J. Szmulewicz et al. · The American Journal of Human Genetics · 2022 · 159 citations · Full text

Pathology, Neurogenetics, Neurology +2

A comprehensive analysis of gut and skin microbiota in canine atopic dermatitis in Shiba Inu dogs

Mirja Thomsen, Axel Künstner, Inken Wohlers et al. · Microbiome · 2023 · 30 citations · Full text

<scp><i>RFC1</i></scp> and <scp><i>FGF14</i></scp> Repeat Expansions in Serbian Patients with Cerebellar Ataxia

Andona Milovanović, Nataša Dragaševic‐Mišković, Mirja Thomsen et al. · Movement Disorders Clinical Practice · 2024 · 18 citations · Full text

Neurological Disorder, Genetics, Genetic Epidemiology +26

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with <scp><i>DAB1</i></scp> and <scp><i>C9ORF72</i></scp> Repeat Expansions: An 18‐Year Study

Angela Rosenbohm, Hendrik Pott, Mirja Thomsen et al. · Movement Disorders · 2022 · 13 citations · Full text

Dystonia Linked to <scp><i>EIF4A2</i></scp> Haploinsufficiency: A Disorder of Protein Translation Dysfunction

Philip Harrer, Matěj Škorvánek, Volker Kittke et al. · Movement Disorders · 2023 · 13 citations · Full text